OFC6
MCID: ORF025
MIFTS: 15

Orofacial Cleft 6 (OFC6)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Orofacial Cleft 6

MalaCards integrated aliases for Orofacial Cleft 6:

Name: Orofacial Cleft 6 58 76 13
Orofacial Cleft 6, Susceptibility to 58 30 6
Ofc6 58 76
Cleft Lip with or Without Cleft Palate, Nonsyndromic, 6 58
Non-Syndromic Cleft Lip with or Without Cleft Palate 6 76
Non-Syndromic Cleft Lip/palate 6 76
Non-Syndromic Orofacial Cleft 6 76
Orofacial Cleft, Type 6 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see ofc1, )
allelic disorder to van der woude syndrome (vws, ) and popliteal pterygium syndrome (pps, )


HPO:

33
orofacial cleft 6:
Inheritance heterogeneous sporadic polygenic inheritance


Classifications:



External Ids:

OMIM 58 608864
MeSH 45 D002971
MedGen 43 C1837213
SNOMED-CT via HPO 70 63567004 80281008 87979003

Summaries for Orofacial Cleft 6

UniProtKB/Swiss-Prot : 76 Non-syndromic orofacial cleft 6: A birth defect consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum.

MalaCards based summary : Orofacial Cleft 6, is also known as orofacial cleft 6, susceptibility to. An important gene associated with Orofacial Cleft 6 is IRF6 (Interferon Regulatory Factor 6). Related phenotypes are cleft palate and cleft upper lip

Description from OMIM: 608864

Related Diseases for Orofacial Cleft 6

Symptoms & Phenotypes for Orofacial Cleft 6

Human phenotypes related to Orofacial Cleft 6:

33
# Description HPO Frequency HPO Source Accession
1 cleft palate 33 HP:0000175
2 cleft upper lip 33 HP:0000204

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate, isolated
cleft lip, isolated
cleft lip and cleft palate

Clinical features from OMIM:

608864

Drugs & Therapeutics for Orofacial Cleft 6

Search Clinical Trials , NIH Clinical Center for Orofacial Cleft 6

Genetic Tests for Orofacial Cleft 6

Genetic tests related to Orofacial Cleft 6:

# Genetic test Affiliating Genes
1 Orofacial Cleft 6, Susceptibility to 30 IRF6

Anatomical Context for Orofacial Cleft 6

Publications for Orofacial Cleft 6

Variations for Orofacial Cleft 6

UniProtKB/Swiss-Prot genetic disease variations for Orofacial Cleft 6:

76
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Phe369Ser VAR_014988 rs118541231

ClinVar genetic disease variations for Orofacial Cleft 6:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh37 Chromosome 1, 209961959: 209961959
2 IRF6 NM_006147.3(IRF6): c.1210G> A (p.Glu404Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs769068305 GRCh38 Chromosome 1, 209788614: 209788614
3 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh37 Chromosome 1, 209969822: 209969822
4 IRF6 NM_006147.3(IRF6): c.250C> T (p.Arg84Cys) single nucleotide variant Pathogenic rs121434226 GRCh38 Chromosome 1, 209796477: 209796477
5 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh37 Chromosome 1, 209969846: 209969846
6 IRF6 NM_006147.3(IRF6): c.226C> T (p.Pro76Ser) single nucleotide variant Pathogenic rs886039388 GRCh38 Chromosome 1, 209796501: 209796501
7 IRF6 NM_006147.3(IRF6): c.-75-4A> G single nucleotide variant Benign rs2235377 GRCh38 Chromosome 1, 209802047: 209802047
8 IRF6 NM_006147.3(IRF6): c.-75-4A> G single nucleotide variant Benign rs2235377 GRCh37 Chromosome 1, 209975392: 209975392
9 IRF6 NM_006147.3(IRF6): c.1268T> G (p.Ile423Ser) single nucleotide variant Uncertain significance rs1553247592 GRCh38 Chromosome 1, 209788556: 209788556
10 IRF6 NM_006147.3(IRF6): c.1268T> G (p.Ile423Ser) single nucleotide variant Uncertain significance rs1553247592 GRCh37 Chromosome 1, 209961901: 209961901
11 IRF6 NM_006147.3(IRF6): c.964T> A (p.Tyr322Asn) single nucleotide variant Uncertain significance rs1553247754 GRCh38 Chromosome 1, 209790591: 209790591
12 IRF6 NM_006147.3(IRF6): c.964T> A (p.Tyr322Asn) single nucleotide variant Uncertain significance rs1553247754 GRCh37 Chromosome 1, 209963936: 209963936
13 IRF6 NM_006147.3(IRF6): c.1055T> G (p.Leu352Arg) single nucleotide variant Uncertain significance rs1553247744 GRCh38 Chromosome 1, 209790500: 209790500
14 IRF6 NM_006147.3(IRF6): c.1055T> G (p.Leu352Arg) single nucleotide variant Uncertain significance rs1553247744 GRCh37 Chromosome 1, 209963845: 209963845
15 IRF6 NM_006147.3(IRF6): c.749G> A (p.Arg250Gln) single nucleotide variant Pathogenic rs1553247774 GRCh38 Chromosome 1, 209790806: 209790806
16 IRF6 NM_006147.3(IRF6): c.749G> A (p.Arg250Gln) single nucleotide variant Pathogenic rs1553247774 GRCh37 Chromosome 1, 209964151: 209964151
17 IRF6 NM_006147.3(IRF6): c.82T> G (p.Trp28Gly) single nucleotide variant Uncertain significance rs1553248637 GRCh38 Chromosome 1, 209801332: 209801332
18 IRF6 NM_006147.3(IRF6): c.82T> G (p.Trp28Gly) single nucleotide variant Uncertain significance rs1553248637 GRCh37 Chromosome 1, 209974677: 209974677
19 IRF6 NM_006147.3(IRF6): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic rs1553247595 GRCh37 Chromosome 1, 209961935: 209961935
20 IRF6 NM_006147.3(IRF6): c.1234C> T (p.Arg412Ter) single nucleotide variant Pathogenic rs1553247595 GRCh38 Chromosome 1, 209788590: 209788590
21 IRF6 NM_006147.3(IRF6): c.242C> A (p.Ala81Asp) single nucleotide variant Uncertain significance rs1553248270 GRCh37 Chromosome 1, 209969830: 209969830
22 IRF6 NM_006147.3(IRF6): c.242C> A (p.Ala81Asp) single nucleotide variant Uncertain significance rs1553248270 GRCh38 Chromosome 1, 209796485: 209796485
23 IRF6 NM_006147.3(IRF6): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs779827384 GRCh38 Chromosome 1, 209790666: 209790666
24 IRF6 NM_006147.3(IRF6): c.889G> A (p.Val297Ile) single nucleotide variant Uncertain significance rs779827384 GRCh37 Chromosome 1, 209964011: 209964011
25 IRF6 NM_006147.3(IRF6): c.264T> A (p.Asn88Lys) single nucleotide variant Uncertain significance rs1553248265 GRCh37 Chromosome 1, 209969808: 209969808
26 IRF6 NM_006147.3(IRF6): c.264T> A (p.Asn88Lys) single nucleotide variant Uncertain significance rs1553248265 GRCh38 Chromosome 1, 209796463: 209796463
27 IRF6 NM_006147.3(IRF6): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance rs1553248267 GRCh37 Chromosome 1, 209969812: 209969812
28 IRF6 NM_006147.3(IRF6): c.260T> C (p.Leu87Pro) single nucleotide variant Uncertain significance rs1553248267 GRCh38 Chromosome 1, 209796467: 209796467
29 IRF6 NM_006147.3(IRF6): c.1368delC (p.Ser457Alafs) deletion Uncertain significance rs1553247577 GRCh37 Chromosome 1, 209961801: 209961801
30 IRF6 NM_006147.3(IRF6): c.1368delC (p.Ser457Alafs) deletion Uncertain significance rs1553247577 GRCh38 Chromosome 1, 209788456: 209788456
31 IRF6 NM_006147.3(IRF6): c.668-5T> G single nucleotide variant Uncertain significance rs1553247787 GRCh37 Chromosome 1, 209964237: 209964237
32 IRF6 NM_006147.3(IRF6): c.668-5T> G single nucleotide variant Uncertain significance rs1553247787 GRCh38 Chromosome 1, 209790892: 209790892
33 IRF6 NM_006147.3(IRF6): c.41_42delTGinsGT (p.Leu14Arg) indel Uncertain significance GRCh37 Chromosome 1, 209974717: 209974718
34 IRF6 NM_006147.3(IRF6): c.41_42delTGinsGT (p.Leu14Arg) indel Uncertain significance GRCh38 Chromosome 1, 209801372: 209801373
35 IRF6 NM_006147.3(IRF6): c.174+2dup duplication Uncertain significance GRCh38 Chromosome 1, 209801238: 209801238
36 IRF6 NM_006147.3(IRF6): c.174+2dup duplication Uncertain significance GRCh37 Chromosome 1, 209974583: 209974583
37 IRF6 NM_006147.3(IRF6): c.565G> A (p.Glu189Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 209792371: 209792371
38 IRF6 NM_006147.3(IRF6): c.565G> A (p.Glu189Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 209965716: 209965716
39 IRF6 NM_006147.3(IRF6): c.1314_1324delGCTGTACCGCA (p.Gln438Hisfs) deletion Likely pathogenic GRCh38 Chromosome 1, 209788500: 209788510
40 IRF6 NM_006147.3(IRF6): c.1314_1324delGCTGTACCGCA (p.Gln438Hisfs) deletion Likely pathogenic GRCh37 Chromosome 1, 209961845: 209961855

Expression for Orofacial Cleft 6

Search GEO for disease gene expression data for Orofacial Cleft 6.

Pathways for Orofacial Cleft 6

GO Terms for Orofacial Cleft 6

Sources for Orofacial Cleft 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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